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prothrombin (F2) gene p.G20210A

Clinical significance: - G20210A mutation associated with hypercoagulability - 3-fold risk for initial venous thromboembolism (VTE) - not associated with increased risk of recurrent VTE [4] - along with factor V Leiden mutation, responsible for 2 of the most common inherited types of hypercoagulability [4] Epidemiology: - 1-2% of non-hispanic whites & Mexican-Americans - 0.3% of blacks [4] Genetics: - involves a single nucleotide polymorphism (SNP) resulting in a guanine substitution for an adenine at position 20210 within the 3' untranslated region of the prothrombin gene - prothrombin G20210A mutation stabilizes prothrombin mRNA increasing prothrombin levels by 30% in heterozygotes & 70% in homozygotes - heterozygosity for G20210A increases risk of venous thromboembolism 2.5 fold - most patients are asymptomatic [4] - heterozygosity for G20210A & factor V Leiden increases risk of venous thromboembolism 5-7 fold Specimen: - whole blood

Related

prothrombin; coagulation factor II; contains: activation peptide fragment 1; activation peptide fragment 2; thrombin light chain; thrombin heavy chain (F2)

General

prothrombin genotyping

References

  1. Primerdesign: Prothrombin genotyping kit http://highresolutionmelt.co.uk/Download%20material/Prothrombin%20Handbook.pdf
  2. Panel of 6 tests Laboratory Test Directory ARUP: 30133
  3. Prothrombin (F2) G20210A Mutation Laboratory Test Directory ARUP: 56060
  4. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2022